@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP277943.RAVXnam096YuDWEqZresFHqfBnRcF7jGbwNa_Y0oYrAkA
> .
@prefix rdfs: <
http://www.w3.org/2000/01/rdf-schema#
> .
@prefix xsd: <
http://www.w3.org/2001/XMLSchema#
> .
@prefix sio: <
http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
@prefix lld: <
http://linkedlifedata.com/resource/umls/id/
> .
@prefix miriam-gene: <
http://identifiers.org/ncbigene/
> .
@prefix miriam-pubmed: <
http://identifiers.org/pubmed/
> .
@prefix eco: <
http://purl.obolibrary.org/obo/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@prefix prv: <
http://purl.org/net/provenance/ns#
> .
@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix np: <
http://www.nanopub.org/nschema#
> .
@prefix dgn-np: <
http://rdf.disgenet.org/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP277943.RAVXnam096YuDWEqZresFHqfBnRcF7jGbwNa_Y0oYrAkA130_head
{
this:
np:hasAssertion
dgn-np:NP277943.RAVXnam096YuDWEqZresFHqfBnRcF7jGbwNa_Y0oYrAkA130_assertion
;
np:hasProvenance
dgn-np:NP277943.RAVXnam096YuDWEqZresFHqfBnRcF7jGbwNa_Y0oYrAkA130_provenance
;
np:hasPublicationInfo
dgn-np:NP277943.RAVXnam096YuDWEqZresFHqfBnRcF7jGbwNa_Y0oYrAkA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP277943.RAVXnam096YuDWEqZresFHqfBnRcF7jGbwNa_Y0oYrAkA130_assertion
a
np:Assertion
.
dgn-np:NP277943.RAVXnam096YuDWEqZresFHqfBnRcF7jGbwNa_Y0oYrAkA130_provenance
a
np:Provenance
.
dgn-np:NP277943.RAVXnam096YuDWEqZresFHqfBnRcF7jGbwNa_Y0oYrAkA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP277943.RAVXnam096YuDWEqZresFHqfBnRcF7jGbwNa_Y0oYrAkA130_assertion
{
miriam-gene:10058
a
ncit:C16612
.
lld:C0009363
a
ncit:C7057
.
dgn-gda:DGN45b442fe4972f5305e64bdfae9ad1834
sio:SIO_000628
miriam-gene:10058
,
lld:C0009363
;
a
sio:SIO_001121
.
}
dgn-np:NP277943.RAVXnam096YuDWEqZresFHqfBnRcF7jGbwNa_Y0oYrAkA130_provenance
{
dgn-np:NP277943.RAVXnam096YuDWEqZresFHqfBnRcF7jGbwNa_Y0oYrAkA130_assertion
dcterms:description
"[Sequence analysis was performed on the ABCB6 exons from 116 sporadic cases of microphthalmia with coloboma (MAC), isolated coloboma, and aniridia, and an additional mutation (A57T) was identified in three patients with MAC.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_literature
;
sio:SIO_000772
miriam-pubmed:22226084
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
xsd:date
.
dgn-void:source_evidence_literature
a
eco:ECO_0000212
;
rdfs:comment
"Gene-disease associations inferred from text-mining the literature."@en ;
rdfs:label
"DisGeNET evidence - LITERATURE"@en .
}
dgn-np:NP277943.RAVXnam096YuDWEqZresFHqfBnRcF7jGbwNa_Y0oYrAkA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:36+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetrdf
;
pav:authoredBy
<
http://orcid.org/0000-0001-5999-6269
> , <
http://orcid.org/0000-0002-7534-7661
> , <
http://orcid.org/0000-0002-9383-528X
> , <
http://orcid.org/0000-0003-0169-8159
> , <
http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}